Familial nephrotic syndrome and focal segmental glomerulosclerosis

J Pediatr. 1981 Apr;98(4):556-60. doi: 10.1016/s0022-3476(81)80759-7.

Abstract

Three of five siblings developed a steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis within a four-month period. Two of the siblings with nephrotic syndrome (Patients 1 and 2) also have sickle cell anemia; the third (Patient 3) carries the thalassemia trait. The dizygotic twin brother of Patient 2 has sickle cell anemia, but does not have the nephrotic syndrome. The nephrotic syndrome of patient 1 was resistant to corticosteroid and cyclophosphamide therapy and she developed severe renal failure 14 months after onset. The nephrotic syndrome of Patients 2 and 3 was steroid resistant but was partially responsive to cyclophosphamide therapy. They have persistent proteinuria with mild elevation of serum creatinine concentration and hypertension 5 1/2 years after diagnosis. In this family, the nephrotic syndrome appeared unrelated to the specific hemoglobinopathy, HLA type or mixed lymphocyte culture responsiveness despite the similarity of the renal disease.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adrenal Cortex Hormones / therapeutic use
  • Adult
  • Anemia, Sickle Cell / genetics
  • Anemia, Sickle Cell / pathology
  • Cyclophosphamide / therapeutic use
  • Female
  • Humans
  • Kidney Glomerulus / pathology*
  • Male
  • Nephrotic Syndrome / drug therapy
  • Nephrotic Syndrome / genetics*
  • Nephrotic Syndrome / pathology
  • Pregnancy
  • Sclerosis
  • Sickle Cell Trait / genetics
  • Sickle Cell Trait / pathology
  • Thalassemia / genetics
  • Thalassemia / pathology
  • Twins, Dizygotic

Substances

  • Adrenal Cortex Hormones
  • Cyclophosphamide